ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1070A>T (p.Asp357Val) (rs1131690785)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre RCV000492070 SCV000494278 uncertain significance Dilated cardiomyopathy 1A 2017-02-02 criteria provided, single submitter research Patient had syncope since the age of twenty with no structural cardiac changes. At the age of 36 she was diagnosed with ventricular tachycardia and AV block I and II. Slight CK elevation along with mild muscle weakness is noted.

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